Canonical Allele Identifier: CA2734925

Gene: THPO EIF2B5

Linked Data

• ClinVar Variation Id: 344372
• ClinVar RCV Id: RCV000392561 ; RCV002520117 ; RCV003765990
• dbSNP Id: rs780992873
• ExAC: 3:184090846 C / T
• gnomAD v2: 3-184090846-C-T
• gnomAD v3: 3-184373058-C-T
• gnomAD v4: 3-184373058-C-T
• MyVariant Identifiers: chr3:g.184090846C>T (hg19) ; chr3:g.184373058C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184373058C>T , CM000665.2:g.184373058C>T	GRCh38
NC_000003.11:g.184090846C>T , CM000665.1:g.184090846C>T	GRCh37
NC_000003.10:g.185573540C>T	NCBI36
NG_012136.1:g.10087G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.937G>A (THPO)	ENSP00000494281.2:p.Val313Ile
ENST00000647395.1:c.517G>A (THPO) MANE Select	ENSP00000494504.1:p.Val173Ile
ENST00000649095.1:c.937G>A (THPO)	ENSP00000497904.1:p.Val313Ile
ENST00000650229.1:c.500G>A (THPO)	ENSP00000497233.1:p.Arg167His
ENST00000204615.11:c.517G>A (THPO)	ENSP00000204615.7:p.Val173Ile
ENST00000421442.2:c.477+40G>A (THPO)	ENSP00000411704.2:n.477+40G>A
ENST00000444495.1:c.2106+228351C>T (EIF2B5)	ENSP00000409142.1:n.2106+228351C>T
ENST00000445696.6:c.505G>A (THPO)	ENSP00000410763.2:p.Val169Ile
ENST00000477594.1:n.164+40G>A (THPO)
NM_000460.3:c.517G>A (THPO)	NP_000451.1:p.Val173Ile
NM_001177597.2:c.505G>A (THPO)	NP_001171068.1:p.Val169Ile
NM_001177598.2:c.500G>A (THPO)	NP_001171069.1:p.Arg167His
NM_001289997.1:c.477+40G>A (THPO)	NP_001276926.1:n.477+40G>A
NM_001289998.1:c.517G>A (THPO)	NP_001276927.1:p.Val173Ile
NM_001290003.1:c.937G>A (THPO)	NP_001276932.1:p.Val313Ile
NM_001290022.1:c.505G>A (THPO)	NP_001276951.1:p.Val169Ile
NM_001290026.1:c.500G>A (THPO)	NP_001276955.1:p.Arg167His
NM_001290027.1:c.477+40G>A (THPO)	NP_001276956.1:n.477+40G>A
NM_001290028.1:c.517G>A (THPO)	NP_001276957.1:p.Val173Ile
XM_011513113.1:c.885+40G>A (THPO)	XP_011511415.1:n.885+40G>A
NM_000460.4:c.517G>A (THPO) MANE Select	NP_000451.1:p.Val173Ile
XM_017007107.1:c.885+40G>A (THPO)	XP_016862596.1:n.885+40G>A